CEP152 p.Glu29=
c.87G>A · rs1897931321 · VCV888416
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,563,176)
Conditions
2
microcephaly 9, primary, autosomal recessive
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 4.9, phastCons 1 |
| Overall | ||
| CADD | 17.83 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,563,176). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CEP152
- Protein
- p.Glu29=
- Coding
- c.87G>A
- MANE Select
- NM_001194998
- dbSNP
- rs1897931321
- Type
- single nucleotide variant
- Location
- chr15:48805563 (GRCh38)
- Gene constraint
- LOEUF 0.784 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 61.54 · 3 PDB
- Residue 29
- the 'interaction with plk4' region; an α-helix
Similar variants
- CEP152 c.1908+1G>T Likely pathogenic ★★ same condition
- CEP152 c.540+1G>A Pathogenic/Likely pathogenic ★★ same condition
- CEP152 c.972+2T>A Likely pathogenic ★★ same condition
- CEP152 p.Arg115Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP152 p.Arg1309Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP152 p.Arg267Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP152 p.Arg987Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP152 p.Gln265Pro Pathogenic/Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cep152-p-glu29 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown